Myopathy, Congenital, Batten Turner Type

Topic Contents

Myopathy, Congenital, Batten Turner Type

National Organization for Rare Disorders, Inc.

Important It is possible that the main title of the report Myopathy, Congenital, Batten Turner Type is not the name you expected. Please check the
synonyms listing to find the alternate name(s) and
disorder subdivision(s) covered by this report.

Synonyms

Batten Turner Congenital Myopathy

Batten Turner Syndrome

Disorder Subdivisions

None

Related Disorders List

Information on the following diseases can be found in the
Related Disorders section of this report:

Congenital Benign Hypotonia

Werdnig-Hoffman Disease

Canavan's Leukodystrophy

Hypotonia (General)

General Discussion

Batten Turner Type Congenital Myopathy is an extremely rare, inherited muscle disease (myopathy) and is characterized by the lack of muscle tone or floppiness at birth (congenital hypotonia). The symptoms of Batten Turner Type Congenital Myopathy are slowly progressive during infancy and childhood. However, this disorder is not progressive in adulthood.

Symptoms

The first symptoms of Batten Turner Type Congenital Myopathy in a newborn are the slow, progressive loss of muscle tone characterized by floppiness (hypotonia) and general weakness. Early motor skills and other important developmental milestones may be slightly delayed. Toddlers with this disorder usually have mild muscle weakness and may be prone to falling or stumbling. The muscles of the pelvis, neck, and shoulder area are most commonly affected. Since the symptoms of this disease are not progressive during adulthood, most people with Batten Turner Type Congenital Myopathy walk normally as adults. However, some physical activities may be slightly impaired.

Causes

Batten Turner Type Congenital Myopathy is inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

Affected Populations

Batten Turner Type Congenital Myopathy is an extremely rare disorder that affects males and females in equal numbers. The symptoms of this disorder are most obvious during infancy and childhood. Nine cases of Batten Turner Type Congenital Myopathy have been described in the medical literature. Six of these cases were reported in one family.

Related Disorders

Symptoms of the following disorders can be similar to those of Batten Turner Type Congenital Myopathy. Comparisons may be useful for a differential diagnosis:

Congenital Hypotonia is a nonprogressive neuromuscular disorder which is present at birth. This condition is characterized by decreased muscle tone or floppiness with no known cause or may be a symptom of another disorder. Newborns with this disorder have muscle weakness and generalized weakness. In many cases the symptoms improve as the child ages. (For more information on this disorder, choose "Hypotonia" as your search term in the Rare Disease Database.)

Werdnig-Hoffmann Disease is a rare inherited neuromuscular disorder of childhood characterized by generalized muscle weakness and the progressive loss of muscle mass (atrophy). Symptoms may also include hypermobility of the joints, absent tendon reflexes, and rapid twitching (fasciculations) of the tongue. Werdnig-Hoffman Disease is a progressive disorder and affected children may develop breathing problems or kidney impairment. (For more information on this disorder, choose "Werdnig-Hoffman" as your search term in the Rare Disease Database.)

Canavan's Leukodystrophy is a rare inherited disorder that is characterized by the progressive degeneration of the central nervous system. The early symptoms of this disorder include a general lack of energy, floppiness, and the loss of previously acquired motor skills. Symptoms appear in early infancy and are rapidly progressive. Other symptoms may include jerky motions of the arms and legs, poor head control, and/or hearing loss. (For more information on this disorder, choose "Canavan's Leukodystrophy" as your search term in the Rare Disease Database.)

Congenital Hypotonia may occur in association with many other disorders. Generalized muscle weakness and floppiness may be symptoms of these disorders. A variety of other symptoms or unusual facial or physical characteristics may also occur. These other disorders include, but are not limited to, Congenital Hypomyelination Neuropathy, Aicardi Syndrome, Cri du Chat Syndrome, Multiple Carboxylase Deficiency, De Barsy Syndrome, Down's Syndrome, FG Syndrome, Neonatal Herpes, Non-Ketotic Hyperglycinemia, and Tay- Sachs Disease. For a listing of diseases associated with muscle weakness in newborn children and information on these disorders, choose "Hypotonia" as your search term in the Rare Disease Database.)

Standard Therapies

Adults with Batten Turner Type Congenital Myopathy should be encouraged to get adequate exercise and to avoid obesity. Affected adults may experience episodes of mild muscle weakness, but generally there are no major physical disabilities.

Investigational Therapies

Research on genetic disorders and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

This information does not replace the advice of a doctor. Healthwise, Incorporated disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the
Terms of Use .
How this information was developed to help you make better health decisions.

Healthwise, Healthwise for every health decision, and the Healthwise logo are trademarks of Healthwise, Incorporated.

Individual and family medical and dental insurance plans are insured by Cigna Health and Life Insurance Company (CHLIC). In Arizona, individual HMO plans are insured by Cigna HealthCare of Arizona, Inc. Group health insurance and health benefit plans are insured or administered by CHLIC, Connecticut General Life Insurance Company (CGLIC), or their affiliates (see a listing of the legal entities that insure or administer group HMO, dental HMO, and other products or services in your state). Group Universal Life (GUL) insurance plans are insured by CGLIC. Life (other than GUL), accident, critical illness, and disability plans are insured or administered by Life Insurance Company of North America, except in NY, where insured plans are offered by Cigna Life Insurance Company of New York. All insurance policies and group benefit plans contain exclusions and limitations. For availability, costs and complete details of coverage, contact a licensed agent or Cigna sales representative. This website is not intended for residents of New Mexico.

Selecting these links will take you away from Cigna.com. Cigna does not control the linked sites' content or links. Details